المؤلفون: Iftekhar A. Showpnil, Maria E. Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T. Pastore, Umamaheswaran Gurusamy, Jesse M. Hunter, Brandon S. Stone, Dennis W. Bartholomew, Kandamurugu Manickam, Anthony R. Miller, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/a4f7cdcd1f8b40b4abac22ac18b0dace

المؤلفون: Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, Caitlyn M. Colwell, Jesse M. Hunter, Marco L. Leung, Elaine R. Mardis, Peter White, Murugu Manickam, Richard K. Wilson, Daniel C. Koboldt

المصدر: Frontiers in Genetics, Vol 14 (2024)

مصطلحات موضوعية: leigh syndrome, HtrA2, mitochondrial disease, trio-whole exome sequencing, compound heterozygous, MGCA8, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1298574/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/65f0bb324b7e4367bb43e76e7eb8f160

المؤلفون: Sydney E. Townsend, Jesse J. Westfall, Jason B. Navarro, Daniel C. Koboldt, Elaine R. Mardis, Katherine E. Miller, Tracy A. Bedrosian

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/2f4c49cf2848412da29e788270220afa

المؤلفون: Jesse J. Westfall, Wesley N. Schwind, Sahibjot Sran, Jason B. Navarro, Jeffrey Leonard, Jonathan A. Pindrik, Christopher R. Pierson, Daniel R. Boué, Daniel C. Koboldt, Adam P. Ostendorf, Richard K. Wilson, Elaine R. Mardis, Katherine E. Miller, Tracy A. Bedrosian

المصدر: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Encephalitis, Microglial nodules, Epilepsy, Inflammation, Spatial proteomics, Single nucleus RNA-seq, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/7172266047244c74a00d43d4b08784a7

المؤلفون: Stephanie LaHaye, James R. Fitch, Kyle J. Voytovich, Adam C. Herman, Benjamin J. Kelly, Grant E. Lammi, Jeremy A. Arbesfeld, Saranga Wijeratne, Samuel J. Franklin, Kathleen M. Schieffer, Natalie Bir, Sean D. McGrath, Anthony R. Miller, Amy Wetzel, Katherine E. Miller, Tracy A. Bedrosian, Kristen Leraas, Elizabeth A. Varga, Kristy Lee, Ajay Gupta, Bhuvana Setty, Daniel R. Boué, Jeffrey R. Leonard, Jonathan L. Finlay, Mohamed S. Abdelbaki, Diana S. Osorio, Selene C. Koo, Daniel C. Koboldt, Alex H. Wagner, Ann-Kathrin Eisfeld, Krzysztof Mrózek, Vincent Magrini, Catherine E. Cottrell, Elaine R. Mardis, Richard K. Wilson, Peter White

المصدر: BMC Genomics, Vol 22, Iss 1, Pp 1-16 (2021)

مصطلحات موضوعية: Transcriptomics, Genomics, Pediatric neoplasms, Gene fusions, Cancer, RNA-Seq, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/1bf38c799d7f4ba18515aabb9dbe24f1

المؤلفون: Kathleen M. Schieffer, Alexander Z. Feldman, Esko A. Kautto, Sean McGrath, Anthony R. Miller, Maria Elena Hernandez-Gonzalez, Stephanie LaHaye, Katherine E. Miller, Daniel C. Koboldt, Patrick Brennan, Benjamin Kelly, Amy Wetzel, Vibhuti Agarwal, Margaret Shatara, Suzanne Conley, Diana P. Rodriguez, Rolla Abu-Arja, Ala Shaikhkhalil, Matija Snuderl, Brent A. Orr, Jonathan L. Finlay, Diana S. Osorio, Annie I. Drapeau, Jeffrey R. Leonard, Christopher R. Pierson, Peter White, Vincent Magrini, Elaine R. Mardis, Richard K. Wilson, Catherine E. Cottrell, Daniel R. Boué

المصدر: Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Intracranial retinoblastoma, Sellar-suprasellar retinoblastoma, RB1, Structural variation, DNA array-based methylation, SMRT sequencing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/85b8e7d1df914feb8bd8c86c7a9bff75

المؤلفون: Katherine E. Miller, Gregory Wheeler, Stephanie LaHaye, Kathleen M. Schieffer, Sydney Cearlock, Lakshmi Prakruthi Rao Venkata, Alejandro Otero Bravo, Olivia E. Grischow, Benjamin J. Kelly, Peter White, Christopher R. Pierson, Daniel R. Boué, Selene C. Koo, Darren Klawinski, Mark A. Ranalli, Ammar Shaikhouni, Ralph Salloum, Margaret Shatara, Jeffrey R. Leonard, Richard K. Wilson, Catherine E. Cottrell, Elaine R. Mardis, Daniel C. Koboldt

المصدر: Frontiers in Oncology, Vol 12 (2022)

مصطلحات موضوعية: atypical teratoid/rhabdoid tumor (AT/RT), malignant rhabdoid tumor (MRT), SMARCB1, next-generation sequencing, DNA methylation array, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.932337/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/6f21c87851ce462a9ed11e94397b6312

المؤلفون: Andrea Ciolfi, Viviana Caputo, Daniel C. Koboldt, Paolo Uva

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: genomic variation, variant prioritization, splicing, mtDNA, whole genome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.932299/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d82eb9668fa440bfa2d5649cc0b56a29

المؤلفون: Daniel C. Koboldt

المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Next-generation sequencing, Variant calling, Mutation detection, Clinical sequencing, Cancer sequencing, Best practices, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-020-00791-w; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/cb62fd041afe4326a8b1ee031cfe29f4

المؤلفون: Rahul N. Prasad, Ulysses G. Gardner, Alexander Yaney, Daniel M. Prevedello, Daniel C. Koboldt, Diana L. Thomas, Elaine R. Mardis, Joshua D. Palmer

المصدر: Frontiers in Oncology, Vol 11 (2021)

مصطلحات موضوعية: rhabdoid meningioma, meningioma with rhabdoid features, familial BAP1 tumor predisposition syndrome, biallelic BAP1 inactivation, adjuvant radiation therapy, cancer screening, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2021.721712/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/c612d1e68edf48f8a31f64ac32a0efa9

المؤلفون: Andrew D. Franklin, Bimal P. Chaudhari, Daniel C. Koboldt, Kerri Z. Machut

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: polymerase gamma, mitochondria DNA depletion, pulmonary hypertension, whole exome sequencing, case report, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.664278/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/0dae5d94c5e7497eb9f33cc431e91ce6

المؤلفون: Kathleen M. Schieffer (10537669), Alexander Z. Feldman (10537672), Esko A. Kautto (10537675), Sean McGrath (277578), Anthony R. Miller (10005324), Maria Elena Hernandez-Gonzalez (10537678), Stephanie LaHaye (5133932), Katherine E. Miller (8504946), Daniel C. Koboldt (10537681), Patrick Brennan (2503681), Benjamin Kelly (531374), Amy Wetzel (4513321), Vibhuti Agarwal (10537684), Margaret Shatara (10537687), Suzanne Conley (10537690), Diana P. Rodriguez (10537693), Rolla Abu-Arja (10537696), Ala Shaikhkhalil (10537699), Matija Snuderl (4397890), Brent A. Orr (10537702), Jonathan L. Finlay (6175514), Diana S. Osorio (10537705), Annie I. Drapeau (10537708), Jeffrey R. Leonard (627536), Christopher R. Pierson (9857279), Peter White (176319), Vincent Magrini (55436), Elaine R. Mardis (10537711), Richard K. Wilson (10005330), Catherine E. Cottrell (10537714), Daniel R. Boué (10537717)

مصطلحات موضوعية: Genetics, Intracranial retinoblastoma, Sellar-suprasellar retinoblastoma, RB1, Structural variation, DNA array-based methylation, SMRT sequencing, PacBio

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Molecular_classification_of_a_complex_structural_rearrangement_of_the_RB1_locus_in_an_infant_with_sporadic_isolated_intracranial_sellar_region_retinoblastoma/14385352

الاتاحة: https://doi.org/10.6084/m9.figshare.14385352.v1

المؤلفون: Jennifer Carroll, Lisa Pabst, Daniel C. Koboldt, Samuel J. Franklin, Samantha Choi, Richard K. Wilson, Warren Lo

المصدر: Pediatric Neurology. 138:95-97

مصطلحات موضوعية: Male, Phenotype, Developmental Neuroscience, Neurology, Siblings, Migraine with Aura, Pediatrics, Perinatology and Child Health, Humans, Hemiplegia, Neurology (clinical), Cockayne Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc1f58658fb28edb91a1a56f5f3aa7f0
https://doi.org/10.1016/j.pediatrneurol.2022.10.007

المؤلفون: Tracy A. Bedrosian, Katherine E. Miller, Olivia E. Grischow, Kathleen M. Schieffer, Stephanie LaHaye, Hyojung Yoon, Anthony R. Miller, Jason Navarro, Jesse Westfall, Kristen Leraas, Samantha Choi, Rachel Williamson, James Fitch, Benjamin J. Kelly, Peter White, Kristy Lee, Sean McGrath, Catherine E. Cottrell, Vincent Magrini, Jeffrey Leonard, Jonathan Pindrik, Ammar Shaikhouni, Daniel R. Boué, Diana L. Thomas, Christopher R. Pierson, Richard K. Wilson, Adam P. Ostendorf, Elaine R. Mardis, Daniel C. Koboldt

المصدر: Epilepsia. 63:1981-1997

مصطلحات موضوعية: Malformations of Cortical Development, Proto-Oncogene Proteins p21(ras), Epilepsy, Neurology, TOR Serine-Threonine Kinases, Mutation, Brain, Humans, Neurology (clinical), Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dde007295943450b88f963d23e981af9
https://doi.org/10.1111/epi.17323

المؤلفون: Adam D. Pfefferle, Yash N. Agrawal, Daniel C. Koboldt, Krishna L. Kanchi, Jason I. Herschkowitz, Elaine R. Mardis, Jeffrey M. Rosen, Charles M. Perou

المصدر: Disease Models & Mechanisms, Vol 9, Iss 7, Pp 749-757 (2016)

مصطلحات موضوعية: Basal-like breast cancer, Exome sequencing, Genetically engineered mouse models, p53, Personalized genomics, Whole-genome sequencing, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/9/7/749; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/99c2638bbc6a4e349d4cd81936b248eb

المؤلفون: Matthew J. Ellis, Elaine R. Mardis, Li Ding, Cynthia X. Ma, Shunqiang Li, Adam B. Aronson, Nicholas Goel, John Monsey, Daniel C. Koboldt, Dong Shen, Wei Shen, Adam C. Searleman, Shyam M. Kavuri, Ron Bose

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fbaf7dc0a709cdd21804149867847ad
https://doi.org/10.1158/2159-8290.22528730

المؤلفون: Matthew J. Ellis, Elaine R. Mardis, Li Ding, Cynthia X. Ma, Shunqiang Li, Adam B. Aronson, Nicholas Goel, John Monsey, Daniel C. Koboldt, Dong Shen, Wei Shen, Adam C. Searleman, Shyam M. Kavuri, Ron Bose

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21347e9562a95b9f6e6a07589153b709
https://doi.org/10.1158/2159-8290.22528742.v1

المؤلفون: Matthew J. Ellis, Elaine R. Mardis, Li Ding, Cynthia X. Ma, Shunqiang Li, Adam B. Aronson, Nicholas Goel, John Monsey, Daniel C. Koboldt, Dong Shen, Wei Shen, Adam C. Searleman, Shyam M. Kavuri, Ron Bose

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12a97e3e1dc08282afea39c8669809ea
https://doi.org/10.1158/2159-8290.22528721

المؤلفون: Matthew J. Ellis, Elaine R. Mardis, Li Ding, Cynthia X. Ma, Shunqiang Li, Adam B. Aronson, Nicholas Goel, John Monsey, Daniel C. Koboldt, Dong Shen, Wei Shen, Adam C. Searleman, Shyam M. Kavuri, Ron Bose

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36cc5365692d263082cdcd375a227edd
https://doi.org/10.1158/2159-8290.22528727.v1

المؤلفون: Matthew J. Ellis, Elaine R. Mardis, Li Ding, Cynthia X. Ma, Shunqiang Li, Adam B. Aronson, Nicholas Goel, John Monsey, Daniel C. Koboldt, Dong Shen, Wei Shen, Adam C. Searleman, Shyam M. Kavuri, Ron Bose

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a2c3582499691791ff9cd0553158b2e
https://doi.org/10.1158/2159-8290.22528733.v1